What is TSC?

To begin my blog I think it is best to know what TSC (Tuberous Sclerosis Complex) is and how is it going to effect Kallan's life. TSC is a rare genetic disease that effects 50,000 people in the United States and 1 million worldwide.. TSC is caused by spontaneous mutations in 60% of all new cases meaning it is not passed on from Ben or me. TSC is a disease that causes benign tumors to form and grow and all the major organs of the body over the lifespan; heart, brain, kidneys, eyes, lungs and skin. Kallan was born with 4 tumors on her heart that does not effect its integrity and should go away over time. She was also born with several tumors on her brain. These will cause seizures and possibly cognitive delays in the future. Many children with TSC face mulitple brain surgeries to try to combat the problems cause by the brain tumors. Kallan has one large tumor on her brain that will have to be removed at some point. There is a broad scale of severity with TSC. While some children have minimal setbacks and can cognitively develop with medical care, some of them do not and cannot live independaently. Most fall in somewhere in the middle.

Is there a cure??? No there is not, but researchers are closer than ever to finding a treatment for TSC with an anti rejection drug commonly used in transplant patients that shrinks the tumors and allows more cognitive development in children. To us, this is a cure. The problem is, the timeline and intensity of this research is not as focused as research on other more well known diseases due to lack of funding and TSC's relative obscurity. The National TSC Alliance puts forth a valid effort and raised $3 million last year, but congress only gave $6 million to TSC. As you can imagine, it takes hundreds of millions of dollars to fund biomedical research and testing in genetic diseases. Ben and I are on a mission to work with the National TSC Alliance to raise money for a cure and raise awareness of this devestating disorder that effects so many children.

www.tscalliance.org